Fig. 2

Pedigree of patients 2 and 3, radiological examinations, and sequence electropherogram. a The proband’s parents are first-degree cousins. There is no family history of CAGSSS. Genotype results for the c.2282A > G variant are represented under the tested individuals. b Radiological images showing that the first metacarpale bone of the right hand (left) projects short and stunted and the plane x-ray the hyperextension of the metacarpophalangeal and the carpophalangeal joints of the thumb is noticeable. The carpal bones show some mild dysplasia and flattening and tapering of the distal phalanges is visible. Some mild dysplasia of the acetabulum is noticeable (right). On both sides a distinct cross over sign is visible. The femoral heads showing some irregular shape with flattened appearance known as pistol grip deformity. The femoral neck seems shortened in comparison to the opposite side. c Electropherograms of the homozygous proband (upper panel) and representative heterozygous electropherogram (lower panel) showing the nucleotide and amino acid exchange. The variant position is marked with a red arrow